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Allele : Sod2<tm1Cje> superoxide dismutase 2, mitochondrial; targeted mutation 1, Charles J Epstein

Primary Identifier  MGI:1857344 Allele Type  Targeted
Attribute String  Null/knockout Gene  Sod2
Transmission  Germline Strain of Origin  C57BL/6J x (Rb(11.16)2H x Rb(16.17)32Lub)F1
Is Recombinase  false Is Wild Type  false
description  Homozygous mutant mice die within 10 days after birth. They show dilated cardiomyopathy, lipid accumulation in skeletal muscles and in the liver, and acidosis. Succinate dehydrogenase and aconitase activities are severely reduced, especially in the heart. SOD2 is needed to protect mitochondrial enzymes susceptible to superoxide inactivation (J:29899).
molecularNote  A neomycin resistance cassette replaced exon 3 which encodes 39 amino acids involved in homodimerization, tetramer formation, and manganese binding. RT-PCR detected a product from brain RNA that was 117 bp shorter in homozygous mutant mice than in wild type mice. SOD2 activity was not detected in homozygous mutant mice (tissue not specified) and was reduced in brain, heart, liver, and kidney of heterozygous mice.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • Sod2<m1ucsf>,
  • Sod2-,
  • MnSOD,
  • MnSOD,
  • Sod2<mlucsf>,
  • Sod2<tm1Bay>,
  • Sod2<m1ucsf>,
  • Sod2<tm1Bay>,
  • Sod2<mlucsf>,
  • Sod2-
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

75 Publication categories